Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.F333L

KCNA2

401 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Pfam Domains

BTB_2aa 35–126UCSCBTB/POZ domain
Ion_transaa 162–421UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 2

HGNC Alias Symbols

Kv1.2; HK4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_004974.4
p.F333L
c.997T>C
Surrounding Variants
1 paper
NM_004974.4
p.F333V
c.997T>G
3 papers
NM_004974.4
p.F333L
c.999C>G
3 papers
NM_004974.4
p.F333L
c.999C>A
3 papers
NM_004974.4
p.L330R
c.989T>G
1 paper
NM_004974.4
p.L330H
c.989T>A
1 paper
NM_004974.4
p.L330F
c.988C>T
1 paper
NM_004974.4
p.I337_G338insFs
c.1011_1012insT
10 papers
NM_004974.4
p.L328V
c.982T>G
3 papers
NM_004974.4
p.G338E
c.1013G>A
1 paper
NM_004974.4
p.G338fs
c.1012_1013fs
1 paper
NM_004974.4
p.E327V
c.980A>T
2 papers
NM_004974.4
p.E327A
c.980A>C
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